Dyggve-Melchior-Clausen disease (DMC; MIM 223800) and Smith-McCort dysplasia (SMC; MIM 607326) are severe and progressive autosomal recessive skeletal dysplasias caused by mutations in the dymeclin gene (DYM). Individuals with these disorders share many features including disproportionate short stature, a short barrel shaped chest with sternal protrusion, microcephaly, and epiphyseal and metaphyseal irregularities.read more
Tests Available
By gene: DYM
Next Generation Sequencing
$900
Test Code: 1304
|
Deletion / Duplication
$900
Test Code: 1305
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 1644
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Test Details
Technical Information
Genes:
DYM
Disease Groups:
Skeletal Dysplasias
MIM:
607326
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1304 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.